Incidental Mutation 'IGL02712:Slc5a10'
ID 304617
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc5a10
Ensembl Gene ENSMUSG00000042371
Gene Name solute carrier family 5 (sodium/glucose cotransporter), member 10
Synonyms SGLT5, C330021F16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL02712
Quality Score
Status
Chromosome 11
Chromosomal Location 61563608-61611641 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 61598632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 249 (W249*)
Ref Sequence ENSEMBL: ENSMUSP00000118196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051552] [ENSMUST00000093019] [ENSMUST00000148584] [ENSMUST00000151780]
AlphaFold Q5SWY8
Predicted Effect probably null
Transcript: ENSMUST00000051552
AA Change: W278*
SMART Domains Protein: ENSMUSP00000054407
Gene: ENSMUSG00000042371
AA Change: W278*

DomainStartEndE-ValueType
Pfam:SSF 50 479 2.4e-139 PFAM
transmembrane domain 513 535 N/A INTRINSIC
transmembrane domain 576 595 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093019
SMART Domains Protein: ENSMUSP00000090697
Gene: ENSMUSG00000042377

DomainStartEndE-ValueType
Pfam:DUF1669 15 309 1.8e-120 PFAM
Pfam:PLDc_2 165 304 5.5e-11 PFAM
low complexity region 316 336 N/A INTRINSIC
low complexity region 468 481 N/A INTRINSIC
low complexity region 577 585 N/A INTRINSIC
low complexity region 589 604 N/A INTRINSIC
low complexity region 721 731 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128196
Predicted Effect probably null
Transcript: ENSMUST00000148584
AA Change: W278*
SMART Domains Protein: ENSMUSP00000114523
Gene: ENSMUSG00000042371
AA Change: W278*

DomainStartEndE-ValueType
Pfam:SSF 50 479 2.4e-139 PFAM
transmembrane domain 513 535 N/A INTRINSIC
transmembrane domain 576 595 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000151780
AA Change: W249*
SMART Domains Protein: ENSMUSP00000118196
Gene: ENSMUSG00000042371
AA Change: W249*

DomainStartEndE-ValueType
Pfam:SSF 48 185 3.5e-44 PFAM
Pfam:SSF 182 450 5e-79 PFAM
transmembrane domain 484 506 N/A INTRINSIC
transmembrane domain 547 566 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the sodium/glucose transporter family. Members of this family are sodium-dependent transporters and can be divided into two subfamilies based on sequence homology, one that co-transports sugars and the second that transports molecules such as ascorbate, choline, iodide, lipoate, monocaroboxylates, and pantothenate. The protein encoded by this gene has the highest affinity for mannose and has been reported to be most highly expressed in the kidney. This protein may function as a kidney-specific, sodium-dependent mannose and fructose co-transporter. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a targeted allele exhibit impaired fructose reabsorption in the kidneys and exacerbated hepatic steatosis induced by fructose. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angel1 A G 12: 86,769,613 (GRCm39) probably benign Het
Arhgef33 T A 17: 80,667,802 (GRCm39) V289D probably damaging Het
Cabp5 A G 7: 13,137,271 (GRCm39) M93V probably damaging Het
Ces1a A C 8: 93,762,668 (GRCm39) V201G probably damaging Het
Cisd1 A G 10: 71,172,181 (GRCm39) F34L probably benign Het
Cyp26a1 T C 19: 37,688,426 (GRCm39) L316P probably damaging Het
Ddx39a A G 8: 84,448,386 (GRCm39) I213V probably benign Het
Ddx59 A T 1: 136,367,519 (GRCm39) N542I probably benign Het
Dytn T C 1: 63,703,581 (GRCm39) T233A probably benign Het
Fbxo7 A G 10: 85,860,302 (GRCm39) T49A possibly damaging Het
Fmnl2 C A 2: 52,926,510 (GRCm39) probably benign Het
Golga2 G T 2: 32,194,225 (GRCm39) K610N probably damaging Het
Hipk4 T C 7: 27,228,060 (GRCm39) Y269H probably damaging Het
Ifi209 T C 1: 173,470,267 (GRCm39) V285A possibly damaging Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Map3k13 T G 16: 21,724,005 (GRCm39) V329G probably damaging Het
Mrm3 T C 11: 76,134,683 (GRCm39) W29R possibly damaging Het
Nherf1 T C 11: 115,068,060 (GRCm39) V200A possibly damaging Het
Nos1ap T C 1: 170,156,820 (GRCm39) I213V possibly damaging Het
Nphp4 C T 4: 152,640,732 (GRCm39) T1033M probably damaging Het
Nr5a2 T C 1: 136,868,266 (GRCm39) probably null Het
Nrcam A G 12: 44,620,610 (GRCm39) Y885C probably damaging Het
Odr4 A G 1: 150,262,107 (GRCm39) probably null Het
Or1e17 T C 11: 73,831,756 (GRCm39) V228A probably benign Het
Or8b57 T C 9: 40,004,082 (GRCm39) H60R probably damaging Het
Ovgp1 T A 3: 105,893,829 (GRCm39) probably benign Het
Pdzd2 T C 15: 12,376,113 (GRCm39) S1341G probably benign Het
Pld2 T G 11: 70,447,905 (GRCm39) L856R probably benign Het
Plod1 A G 4: 148,003,344 (GRCm39) F494L possibly damaging Het
Pnkd T A 1: 74,389,027 (GRCm39) S233T possibly damaging Het
Rnf144b T C 13: 47,393,255 (GRCm39) I198T probably damaging Het
Rsc1a1 G T 4: 141,412,376 (GRCm39) Q179K probably benign Het
Spata32 T G 11: 103,098,973 (GRCm39) probably benign Het
Stk4 T A 2: 163,938,817 (GRCm39) H228Q probably damaging Het
Szt2 T A 4: 118,242,030 (GRCm39) Q1592L probably benign Het
Tnc T A 4: 63,893,493 (GRCm39) I1598F probably damaging Het
Togaram2 A T 17: 72,011,749 (GRCm39) D476V probably benign Het
Ttll6 T G 11: 96,030,601 (GRCm39) probably benign Het
Vmn2r118 A G 17: 55,899,655 (GRCm39) S750P probably benign Het
Zswim5 C T 4: 116,842,892 (GRCm39) T879I probably damaging Het
Other mutations in Slc5a10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01360:Slc5a10 APN 11 61,605,962 (GRCm39) missense probably damaging 0.99
IGL02215:Slc5a10 APN 11 61,564,738 (GRCm39) missense probably benign 0.00
IGL02354:Slc5a10 APN 11 61,610,666 (GRCm39) critical splice donor site probably null
IGL02361:Slc5a10 APN 11 61,610,666 (GRCm39) critical splice donor site probably null
IGL02573:Slc5a10 APN 11 61,563,898 (GRCm39) missense possibly damaging 0.89
R1535:Slc5a10 UTSW 11 61,564,767 (GRCm39) missense possibly damaging 0.65
R1659:Slc5a10 UTSW 11 61,567,070 (GRCm39) missense possibly damaging 0.94
R1698:Slc5a10 UTSW 11 61,600,428 (GRCm39) missense probably benign 0.44
R2161:Slc5a10 UTSW 11 61,610,760 (GRCm39) missense probably null 0.17
R4948:Slc5a10 UTSW 11 61,610,708 (GRCm39) missense probably damaging 0.98
R5686:Slc5a10 UTSW 11 61,569,392 (GRCm39) missense probably benign 0.19
R5689:Slc5a10 UTSW 11 61,598,710 (GRCm39) missense probably benign 0.16
R7398:Slc5a10 UTSW 11 61,564,405 (GRCm39) missense probably benign
R7769:Slc5a10 UTSW 11 61,564,473 (GRCm39) missense probably damaging 1.00
R8234:Slc5a10 UTSW 11 61,564,107 (GRCm39) missense probably benign
R8257:Slc5a10 UTSW 11 61,605,873 (GRCm39) missense probably damaging 1.00
R8492:Slc5a10 UTSW 11 61,564,809 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16